Speech language pathology findings in a Treacher Collins syndrome patient

Massi, Giselle; França, Dayane Roberta de; Santos, Rosane Sampaio; Ribas, Ângela; Fonseca, Vinícios Duarte; Guarinello, Ana Cristina; Ziesemer, Nadine de Biagi

doi:10.5935/0946-5448.20160006

Cited by 5 publications

(11 citation statements)

References 11 publications

(12 reference statements)

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“…Hypoplasia of the facial bone might result in dental malocclusion with anterior open bite, and the teeth might be widely spaced, malpositioned, or reduced in number. 6 These features were closely related with micrognathia. Rosa et al 3 reported external ear abnormalities in TCS patients, the highest was microtia ( 95% of cases), canal atresia (78% of cases), and canal stenosis (22% of cases).…”

Section: Discussionmentioning

confidence: 90%

“…[3][4][5] Treacher-Collins syndrome is a congenital disorder that can affect the development of speech and language. 6 The disorder is not widely known and the incidence is very low. The purpose of presenting this case was to share one rare case of TCS in order to increase the knowledge of colleagues regarding TCS diagnosis and its management.…”

Section: Introductionmentioning

confidence: 99%

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Hearing Loss in Treacher-Collins Syndrome

Fuadi

Wijana

2021

Oto Rhino Laryn Indones

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Treacher Collins Syndrome is a craniofacial disorder that has dominant autosomal disorder in facial development, found 1 in every 50,000 births. The common manifestations can be mandibulofacial disorder, microtia, atresia of the ear canal, and hearing loss. This syndrome is also accompanied by malformations of the ossicular chain of bone in the middle ear, which can lead to conductive hearing loss up to 50% of cases and sensory neural hearing loss. The aim of this report was to present one case of Treacher-Collins Syndrome at the Audiology - Vestibular clinic Dr. Hasan Sadikin General Hospital Bandung. The main complaint of the patient is micrognathia and microtia with hearing loss in both ears. The right ear is smaller than the left ear, and supported to 2nd grade of Microtia. The patient had performed reconstruction ear surgery in the right ear, and had improvement from audiological examination after the 2nd stage of reconstruction. There was TCOF 1 gene mutation involved from this case. Conclusion: Treacher Collins syndrome is a rare inherited disorder, but the diagnose can be easily enforced. Early intervention with hearing rehabilitation, audio-verbal rehabilitation, and reconstruction ear surgery must be carried out for a better quality of life. Keyword : Treacher collins syndrome, micrognathia, microtia, hearing loss

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Section: Discussionmentioning

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Hearing Loss in Treacher-Collins Syndrome

Fuadi

Wijana

2021

Oto Rhino Laryn Indones

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“…As mentioned in the Introduction, the studies showed cohorts with typical TCS conditions. Most participants had jawbone hypoplasia, and in the case report of Massi et al [25], the TCS patient also had a cleft palate. In terms of the hearing organ, most participants had a bilateral absence of the auricle.…”

Section: Study Cohort Overviewmentioning

confidence: 96%

Systematic Review of Current Audiological Treatment Options for Patients with Treacher Collins Syndrome (TCS) and Surgical and Audiological Experiences of an Otorhinolaryngologist with TCS

Marinac,

Trotić,

Košec

2024

JPM

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Treacher Collins syndrome (TCS) is a rare congenital craniofacial condition that affects approximately one out of fifty thousand births. Different ratios of TCS patients have conductive hearing loss: 88%1 vs. 91.4–100.00%2. For this reason, it was examined which hearing solutions can be used with this condition and how effective they are. A systematic literature review was conducted, which showed that the bone-anchored hearing aid (BAHA, OSIA), the bone conduction implant (Bonebridge) or the active implant of the middle ear (Soundbridge) are reliable methods for the treatment of conductive hearing loss in TCS patients. After the implantation of all available hearing solutions, improved hearing and speech comprehension were observed. Additionally, a statement regarding the treatment of TCS and a personalized point of view of a clinical expert with TCS were provided. However, due to the small amount of data, no general recommendations can be given for the treatment of hearing loss in TCS patients; therefore, it is advised to collect more data on hearing solutions for TCS patients in future research.

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“…Concerning the orality in patients with TCS, micrognathia and posteriorly displaced tongue are elicited as factors which impair sound articulation and oronasal ressonance, causing speech unintelligibility (10) . The oral deformities cause discursive problems, interferring negatively in the social participation of these patients, pointing to the need of a language-focusing follow-up.…”

Section: Introductionmentioning

confidence: 99%

A linguagem na Síndrome de Treacher Collins: uma análise dialógica

Massi

Vieira

Guarinello

et al. 2019

Audiol., Commun. Res.

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RESUMO A Síndrome de Treacher Collins ou Disostose Mandibulofacial é decorrente de mutações genéticas e caracterizada por malformações craniofaciais. Crianças com essa síndrome podem apresentar dificuldades cognitivas, linguísticas e psicomotoras. São raras as publicações que discorrem sobre a complexidade de seus aspectos terapêuticos, especialmente, voltados à evolução clínica vinculada à linguagem. O presente estudo objetiva analisar o processo terapêutico voltado à oralidade de um menino com essa síndrome, considerando a natureza dialógica da linguagem. Trata-se de um estudo de caso longitudinal e prospectivo, realizado em uma clínica-escola de uma Universidade, situada no sul do Brasil, durante quatro anos, desde 2012 até 2016. Os dados foram coletados a partir de gravações semanais do paciente em interação com os seus terapeutas, sendo, também, considerados os registros arquivados em seu prontuário. Os resultados indicam que a criança apresentou evolução no que se refere à apropriação da linguagem oral. Apesar das dificuldades na produção vocal e na articulação de fonemas, decorrentes de alterações craniofaciais próprias da síndrome em questão, as atividades dialógicas estabelecidas entre o menino, seus terapeutas e sua família, propiciaram mudanças gradativas no seu posicionamento em relação ao outro e à linguagem. Inicialmente, ele fazia uso de gestos, mímicas faciais, apontamentos, os quais eram compreendidos apenas pelas pessoas que faziam parte do seu cotidiano. Atualmente, além dos recursos gestuais, ele passou a usar a oralidade para participar de práticas interativas, indicando mais autonomia para interagir com seus interlocutores.

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Speech language pathology findings in a Treacher Collins syndrome patient

Cited by 5 publications

References 11 publications

Hearing Loss in Treacher-Collins Syndrome

Hearing Loss in Treacher-Collins Syndrome

Systematic Review of Current Audiological Treatment Options for Patients with Treacher Collins Syndrome (TCS) and Surgical and Audiological Experiences of an Otorhinolaryngologist with TCS

A linguagem na Síndrome de Treacher Collins: uma análise dialógica

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